Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

MS Van der Knaap, M Bugiani - Acta neuropathologica, 2017 - Springer
Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from …

White matter astrocytes in health and disease

I Lundgaard, MJ Osório, BT Kress, S Sanggaard… - Neuroscience, 2014 - Elsevier
Myelination by oligodendrocytes is a highly specialized process that relies on intimate
interactions between the axon and the oligodendrocytes. Astrocytes have an important part …

Astrocytes as master modulators of neural networks: Synaptic functions and disease‐associated dysfunction of astrocytes

JA Stogsdill, CC Harwell… - Annals of the New York …, 2023 - Wiley Online Library
Astrocytes are the most abundant glial cell type in the central nervous system and are
essential to the development, plasticity, and maintenance of neural circuits. Astrocytes are …

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

C Depienne, M Bugiani, C Dupuits… - The Lancet …, 2013 - thelancet.com
Background Mutant mouse models suggest that the chloride channel ClC-2 has functions in
ion and water homoeostasis, but this has not been confirmed in human beings. We aimed to …

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

MS van der Knaap, I Boor, R Estévez - The Lancet Neurology, 2012 - thelancet.com
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterised by
chronic white matter oedema. The disease has an infantile onset and leads to slow …

Heterogeneity of white matter astrocytes in the human brain

M Bugiani, BC Plug, JHK Man, M Breur… - Acta …, 2022 - Springer
Astrocytes regulate central nervous system development, maintain its homeostasis and
orchestrate repair upon injury. Emerging evidence support functional specialization of …

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl− channel auxiliary subunit

E Jeworutzki, T López-Hernández, X Capdevila-Nortes… - Neuron, 2012 - cell.com
Ion fluxes mediated by glial cells are required for several physiological processes such as
fluid homeostasis or the maintenance of low extracellular potassium during high neuronal …

Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema

EMJ Passchier, S Kerst, E Brouwers, EMC Hamilton… - Brain, 2023 - academic.oup.com
Brain oedema is a life-threatening complication of various neurological conditions.
Understanding molecular mechanisms of brain volume regulation is critical for therapy …

Astrocyte heterogeneity across the brain and spinal cord occurs developmentally, in adulthood and in response to demyelination

H Yoon, G Walters, AR Paulsen, IA Scarisbrick - PloS one, 2017 - journals.plos.org
Astrocytes have emerged as essential regulators of function and response to injury in the
brain and spinal cord, yet very little is known about regional differences that exist. Here we …

Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction

MB Hoegg-Beiler, S Sirisi, IJ Orozco, I Ferrer… - Nature …, 2014 - nature.com
Defects in the astrocytic membrane protein MLC1, the adhesion molecule GlialCAM or the
chloride channel ClC-2 underlie human leukoencephalopathies. Whereas GlialCAM binds …